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Aliases for CNGA1 Gene

Aliases for CNGA1 Gene

  • Cyclic Nucleotide Gated Channel Alpha 1 2 3
  • Rod Photoreceptor CGMP-Gated Channel Subunit Alpha 3 4
  • Cyclic Nucleotide-Gated Channel, Photoreceptor 3 4
  • Cyclic Nucleotide-Gated Cation Channel 1 3 4
  • Cyclic Nucleotide-Gated Channel Alpha-1 3 4
  • CNG Channel Alpha-1 3 4
  • CNCG1 3 4
  • CNG-1 3 4
  • CNCG 3 4
  • CNG1 3 4
  • Interleukin-1 Homologue 3
  • RCNCalpha 3
  • RCNC1 3
  • RCNCa 3
  • RP49 3

External Ids for CNGA1 Gene

Previous HGNC Symbols for CNGA1 Gene

  • CNCG1
  • CNCG

Previous GeneCards Identifiers for CNGA1 Gene

  • GC04M048014
  • GC04M048247
  • GC04M047787
  • GC04M047778
  • GC04M047632
  • GC04M047257

Summaries for CNGA1 Gene

Entrez Gene Summary for CNGA1 Gene

  • The protein encoded by this gene is involved in phototransduction. Along with another protein, the encoded protein forms a cGMP-gated cation channel in the plasma membrane, allowing depolarization of rod photoreceptors. This represents the last step in the phototransduction pathway. Defects in this gene are a cause of retinitis pigmentosa autosomal recessive (ARRP) disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

GeneCards Summary for CNGA1 Gene

CNGA1 (Cyclic Nucleotide Gated Channel Alpha 1) is a Protein Coding gene. Diseases associated with CNGA1 include cnga1-related retinitis pigmentosa and retinitis pigmentosa 49. Among its related pathways are Signaling by GPCR and Activation of cAMP-Dependent PKA. GO annotations related to this gene include ion channel activity and cGMP binding. An important paralog of this gene is KCNH1.

UniProtKB/Swiss-Prot for CNGA1 Gene

  • Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated by cyclic GMP which leads to an opening of the cation channel and thereby causing a depolarization of rod photoreceptors

Gene Wiki entry for CNGA1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CNGA1 Gene

Genomics for CNGA1 Gene

Regulatory Elements for CNGA1 Gene

Genomic Location for CNGA1 Gene

Chromosome:
4
Start:
47,935,015 bp from pter
End:
48,016,679 bp from pter
Size:
81,665 bases
Orientation:
Minus strand

Genomic View for CNGA1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CNGA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CNGA1 Gene

Proteins for CNGA1 Gene

  • Protein details for CNGA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P29973-CNGA1_HUMAN
    Recommended name:
    cGMP-gated cation channel alpha-1
    Protein Accession:
    P29973
    Secondary Accessions:
    • A8K7K6
    • J3KPZ2
    • Q16279
    • Q16485
    • Q4W5E3

    Protein attributes for CNGA1 Gene

    Size:
    690 amino acids
    Molecular mass:
    79586 Da
    Quaternary structure:
    • Tetramer formed of three CNGA1 and one CNGB1 modulatory subunits.
    SequenceCaution:
    • Sequence=AAB22778.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for CNGA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CNGA1 Gene

Proteomics data for CNGA1 Gene at MOPED

Post-translational modifications for CNGA1 Gene

  • Glycosylation at Asn 425
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for CNGA1 Gene

Domains & Families for CNGA1 Gene

Gene Families for CNGA1 Gene

Suggested Antigen Peptide Sequences for CNGA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P29973

UniProtKB/Swiss-Prot:

CNGA1_HUMAN :
  • The C-terminal coiled-coil domain mediates homotrimerization of CNGA subunits.
  • Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGA1 subfamily.
Domain:
  • The C-terminal coiled-coil domain mediates homotrimerization of CNGA subunits.
  • Contains 1 cyclic nucleotide-binding domain.
Family:
  • Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGA1 subfamily.
genes like me logo Genes that share domains with CNGA1: view

Function for CNGA1 Gene

Molecular function for CNGA1 Gene

GENATLAS Biochemistry:
cyclic guanine nucleotide gated channel (cGMP),rod photoreceptor,expressed in the rod outer segment alpha 1 subunit,heterodimerizing with CNGB4
UniProtKB/Swiss-Prot Function:
Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated by cyclic GMP which leads to an opening of the cation channel and thereby causing a depolarization of rod photoreceptors

Gene Ontology (GO) - Molecular Function for CNGA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity --
GO:0005222 intracellular cAMP activated cation channel activity IBA --
GO:0005223 intracellular cGMP activated cation channel activity IBA --
GO:0005249 voltage-gated potassium channel activity IBA --
GO:0005515 protein binding IPI 20890309
genes like me logo Genes that share ontologies with CNGA1: view
genes like me logo Genes that share phenotypes with CNGA1: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CNGA1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CNGA1 Gene

Localization for CNGA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CNGA1 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CNGA1 Gene COMPARTMENTS Subcellular localization image for CNGA1 gene
Compartment Confidence
plasma membrane 4

Gene Ontology (GO) - Cellular Components for CNGA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 7479749
GO:0016020 membrane --
GO:0042622 photoreceptor outer segment membrane IEA --
genes like me logo Genes that share ontologies with CNGA1: view

Pathways & Interactions for CNGA1 Gene

genes like me logo Genes that share pathways with CNGA1: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for CNGA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 7479749
GO:0006811 ion transport --
GO:0007601 visual perception IEA --
GO:0007603 phototransduction, visible light TAS --
GO:0016056 rhodopsin mediated signaling pathway TAS --
genes like me logo Genes that share ontologies with CNGA1: view

No data available for SIGNOR curated interactions for CNGA1 Gene

Drugs & Compounds for CNGA1 Gene

(3) Drugs for CNGA1 Gene - From: IUPHAR, DGIdb, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cyclic GMP Experimental Pharma 0
cgmp Pharma Activation, Activator 0
L-(cis)-diltiazem Pharma Antagonist, Pore Blocker 0
genes like me logo Genes that share compounds with CNGA1: view

Transcripts for CNGA1 Gene

Unigene Clusters for CNGA1 Gene

Cyclic nucleotide gated channel alpha 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CNGA1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CNGA1 Gene

No ASD Table

Relevant External Links for CNGA1 Gene

GeneLoc Exon Structure for
CNGA1
ECgene alternative splicing isoforms for
CNGA1

Expression for CNGA1 Gene

mRNA expression in normal human tissues for CNGA1 Gene

mRNA differential expression in normal tissues according to GTEx for CNGA1 Gene

This gene is overexpressed in Liver (x8.0) and Esophagus - Mucosa (x4.1).

Protein differential expression in normal tissues from HIPED for CNGA1 Gene

This gene is overexpressed in Retina (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CNGA1 Gene



SOURCE GeneReport for Unigene cluster for CNGA1 Gene Hs.1323

mRNA Expression by UniProt/SwissProt for CNGA1 Gene

P29973-CNGA1_HUMAN
Tissue specificity: Rod cells in the retina
genes like me logo Genes that share expression patterns with CNGA1: view

Protein tissue co-expression partners for CNGA1 Gene

Primer Products

In Situ Assay Products

Orthologs for CNGA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CNGA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CNGA1 36
  • 100 (a)
OneToOne
CNGA1 35
  • 99.43 (n)
  • 99.74 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia CNGA1 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cnga1 36
  • 90 (a)
OneToOne
Cnga1 16
Cnga1 35
  • 85.88 (n)
  • 89.12 (a)
oppossum
(Monodelphis domestica)
Mammalia CNGA1 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CNGA1 36
  • 92 (a)
OneToOne
CNGA1 35
  • 89.34 (n)
  • 90.07 (a)
cow
(Bos Taurus)
Mammalia CNGA1 36
  • 91 (a)
OneToOne
CNGA1 35
  • 88.29 (n)
  • 89.21 (a)
rat
(Rattus norvegicus)
Mammalia Cnga1 35
  • 85.49 (n)
  • 89.71 (a)
chicken
(Gallus gallus)
Aves CNGA1 36
  • 79 (a)
OneToOne
CNGA1 35
  • 76.08 (n)
  • 80.32 (a)
lizard
(Anolis carolinensis)
Reptilia CNGA1 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cnga1 35
  • 72.22 (n)
  • 74.39 (a)
zebrafish
(Danio rerio)
Actinopterygii CNGA1 (2 of 2) 36
  • 60 (a)
OneToMany
cnga1 36
  • 70 (a)
OneToMany
cnga1 35
  • 68.66 (n)
  • 75.9 (a)
fruit fly
(Drosophila melanogaster)
Insecta Cng 36
  • 36 (a)
OneToMany
cngl 37
  • 43 (a)
Cng 37
  • 53 (a)
CG3536 37
  • 59 (a)
worm
(Caenorhabditis elegans)
Secernentea tax-4 36
  • 41 (a)
ManyToMany
cng-3 36
  • 23 (a)
ManyToMany
cng-2 36
  • 22 (a)
ManyToMany
cng-1 36
  • 31 (a)
ManyToMany
che-6 36
  • 27 (a)
ManyToMany
Y76B12C.1 37
  • 29 (a)
wrt-3 37
  • 24 (a)
tax-4 37
  • 51 (a)
F14H8.6 37
  • 34 (a)
C23H5.7 37
  • 30 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 58 (a)
OneToMany
Species with no ortholog for CNGA1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CNGA1 Gene

ENSEMBL:
Gene Tree for CNGA1 (if available)
TreeFam:
Gene Tree for CNGA1 (if available)

Paralogs for CNGA1 Gene

(4) SIMAP similar genes for CNGA1 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for CNGA1 Gene

genes like me logo Genes that share paralogs with CNGA1: view

Variants for CNGA1 Gene

Sequence variations from dbSNP and Humsavar for CNGA1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
VAR_009295 -
VAR_009296 -, -
VAR_009297 Retinitis pigmentosa 49 (RP49)

Structural Variations from Database of Genomic Variants (DGV) for CNGA1 Gene

Variant ID Type Subtype PubMed ID
esv2727534 CNV Deletion 23290073
esv2498611 CNV Deletion 19546169
esv2727535 CNV Deletion 23290073
esv2174980 CNV Deletion 18987734
esv2727536 CNV Deletion 23290073
nsv290106 CNV Loss 16902084
nsv509895 CNV Loss 20534489
esv2663876 CNV Deletion 23128226

Variation tolerance for CNGA1 Gene

Residual Variation Intolerance Score: 31.37% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.47; 82.08% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CNGA1 Gene

HapMap Linkage Disequilibrium report
CNGA1
Human Gene Mutation Database (HGMD)
CNGA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CNGA1 Gene

Disorders for CNGA1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for CNGA1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
cnga1-related retinitis pigmentosa
retinitis pigmentosa 49
  • rp49
retinitis pigmentosa
  • retinitis pigmentosa 1
retinitis pigmentosa autosomal recessive
  • retinitis pigmentosa
retinal disease
  • retina disorder
- elite association
Search CNGA1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CNGA1_HUMAN
  • Retinitis pigmentosa 49 (RP49) [MIM:613756]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:15570217, ECO:0000269 PubMed:7479749}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CNGA1

Genetic Association Database (GAD)
CNGA1
Human Genome Epidemiology (HuGE) Navigator
CNGA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CNGA1
genes like me logo Genes that share disorders with CNGA1: view

No data available for Genatlas for CNGA1 Gene

Publications for CNGA1 Gene

  1. International Union of Pharmacology. LI. Nomenclature and structure-function relationships of cyclic nucleotide-regulated channels. (PMID: 16382102) Hofmann F. … Kaupp U.B. (Pharmacol. Rev. 2005) 2 67
  2. Identification and characterization of a putative cyclic nucleotide-gated channel, CNG-1, in C. elegans. (PMID: 15750353) Cho S.W. … Park C.S. (Mol. Cells 2005) 23 67
  3. An intersubunit interaction regulates trafficking of rod cyclic nucleotide-gated channels and is disrupted in an inherited form of blindness. (PMID: 11970862) Trudeau M.C. … Zagotta W.N. (Neuron 2002) 23 67
  4. Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa. (PMID: 12362048) Paloma E. … Balcells S. (J. Med. Genet. 2002) 23 67
  5. Rotational movement during cyclic nucleotide-gated channel opening. (PMID: 11528481) Johnson J.P. … Zagotta W.N. (Nature 2001) 23 67

Products for CNGA1 Gene

Sources for CNGA1 Gene

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